Allele Registry

Canonical Allele Identifier: PA2828115611

Gene: DOK7 HGNC NCBI

ClinVar RCV:

RCV000641542

RCV000733472

RCV003352962

ClinVar Variation:

534122

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350740.1:p.Ser192Leu	CA2829324 NM_001363811.2:c.575C>T